Endocrine Abstracts Search

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Showing page 1 of results 1 - 10 of about 12 matches for "schoenmakers-erik"

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Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop True congenital hypothyroidism
Catherine Peters; Adeline K. Nicholas; Greta Lyons; Shirley Langham; Eva G. Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazz
http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.7.htm
Published: 2016-11-14

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Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins
Carla Moran; Maura Agostini; Anne McGowan; Erik Schoenmakers; Louise Fairall; Greta Lyons; Odelia Rajanayagam; Laura Watson; Ama
http://www.endocrine-abstracts.org/ea/0044/ea0044p241.htm
Published: 2016-10-14

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Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop True Congenital Hypothyroidism
Catherine Peters; Adeline K Nicholas; Greta Lyons; Shirley Langham; Eva Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazzola;
http://www.endocrine-abstracts.org/ea/0044/ea0044oc3.1.htm
Published: 2016-10-14

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A multisystem selenoprotein disorder with a thyroid signature
Nadia Schoenmakers; Erik Schoenmakers; Maura Agostini; Catherine Mitchell; Laura Papp; Odelia Rajanayagam; Raja Padidela; Rainer
http://www.endocrine-abstracts.org/ea/0021/ea0021oc3.5.htm
Published: 2010-03-31

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Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor α mutation
Nadia Schoenmakers; Elena Bochukova; Maura Agostini; Erik Schoenmakers; Odelia Rajanayagam; Elana Henning; Evelien Gevers; Marga
http://www.endocrine-abstracts.org/ea/0027/ea0027oc1.4.htm
Published: 2011-11-01

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Growth Retardation and Severe Constipation due to the first human, dominant negative Thyroid Hormone Receptor Alpha mutation
Nadia Schoenmakers; Elena Bochukova; Maura Agostini; Erik Schoenmakers; Odelia Rajanayagam; Julia Keogh; Elana Henning; Jana Rei
http://www.endocrine-abstracts.org/ea/0028/ea0028oc1.5.htm
Published: 2012-03-01

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The thyroid hormone receptor-coactivator interface mediates negative feedback regulation of the human pituitary-thyroid axis
Carla Moran; Catherine Mitchell; Maura Agostini; Erik Schoenmakers; John Gregory; Mark Gurnell; Krishna Chatterjee
http://www.endocrine-abstracts.org/ea/0028/ea0028oc1.4.htm
Published: 2012-03-01

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A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism
Nadia Schoenmakers; Hakan Cangul; Adeline K Nicholas; Erik Schoenmakers; Greta Lyons; Mehul Dattani; Catherine Peters; Shirley L
http://www.endocrine-abstracts.org/ea/0033/ea0033oc2.9.htm
Published: 2013-11-01

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Congenital central hypothyroidism due to a TSHB mutation with uniparental inheritance
Adeline K Nicholas; Safia Jaleel; Erik Schoenmakers; Mehul Dattani; Edna Roche; V Krishna Chatterjee; Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0036/ea0036P83.htm
Published: 2014-10-14

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A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism
Olympia Koulouri; Adeline Nicholas; Erik Schoenmakers; Jacek Mokrosinski; Frances Lane; Trevor Cole; Jeremy Kirk; Sadaf Farooqi;
http://www.endocrine-abstracts.org/ea/0038/ea0038oc5.2.htm
Published: 2015-10-12